Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001697833 | SCV000524839 | likely benign | not provided | 2021-03-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000649646 | SCV000771475 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002374664 | SCV002668171 | likely benign | Inborn genetic diseases | 2018-01-25 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Ce |
RCV001697833 | SCV004702743 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | DYNC1H1: BP4, BP7 |
Prevention |
RCV003902543 | SCV004721589 | likely benign | DYNC1H1-related condition | 2024-02-13 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |